Parkinson’s disease is a common progressive neurological disorder characterised by loss of nigral dopaminergic neurones. Rare autosomal dominant familial cases have been associated with point mutations in α-synuclein,^1,2 but the vast majority of cases occur sporadically in older patients without an obvious cause. We now report a unique case of typical late onset Parkinson’s disease without a family history which was associated with an A53T mutation in α-synuclein.

Case report

A war veteran of Polish origin was initially referred for assessment of his parkinsonian condition in 1997 at the age of 74. At presentation his history was of progressive bradykinesia, difficulty in rising from his chair, a tendency to fall, and mild tremor. He was a smoker and had been treated for hypertension and hypercholesterolaemia, but he gave no clear history of cerebrovascular disease. His Austrian mother died at 91 years of age and his French father lived to 89, neither suffering from symptoms of Parkinson’s disease. He had four brothers and three sisters, none of whom had symptoms of Parkinson’s disease (two died in their 20s during the war, the others died at ages 68, 76, 78, and 86, and one has lost touch with the family). Furthermore, his three children, each now in their sixth decade, currently have no diagnosis of Parkinson’s disease. The family know of no relatives of Italian or Greek …